abnormality of the pharynx Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly. (Human Phenotype Ontology, HP_0000600)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000600
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Genes

105 genes associated with the abnormality of the pharynx phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACP5 acid phosphatase 5, tartrate resistant
AICDA activation-induced cytidine deaminase
ANKH ANKH inorganic pyrophosphate transport regulator
ARMC4 armadillo repeat containing 4
ARSB arylsulfatase B
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ATM ATM serine/threonine kinase
C1R complement component 1, r subcomponent
C21ORF59 chromosome 21 open reading frame 59
CCDC114 coiled-coil domain containing 114
CCDC65 coiled-coil domain containing 65
CD19 CD19 molecule
CD79A CD79a molecule, immunoglobulin-associated alpha
CD79B CD79b molecule, immunoglobulin-associated beta
CFI complement factor I
CIITA class II, major histocompatibility complex, transactivator
COMT catechol-O-methyltransferase
CREBBP CREB binding protein
CTC1 CTS telomere maintenance complex component 1
CXCR4 chemokine (C-X-C motif) receptor 4
DCLRE1C DNA cross-link repair 1C
DKC1 dyskeratosis congenita 1, dyskerin
DNAAF1 dynein, axonemal, assembly factor 1
DNAAF2 dynein, axonemal, assembly factor 2
DNAAF5 dynein, axonemal, assembly factor 5
DNAI2 dynein, axonemal, intermediate chain 2
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
EWSR1 EWS RNA-binding protein 1
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
GALNS galactosamine (N-acetyl)-6-sulfatase
GJA1 gap junction protein, alpha 1, 43kDa
GLB1 galactosidase, beta 1
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNS glucosamine (N-acetyl)-6-sulfatase
GP1BB glycoprotein Ib (platelet), beta polypeptide
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HIRA histone cell cycle regulator
HOXD13 homeobox D13
HSPG2 heparan sulfate proteoglycan 2
HYDIN HYDIN, axonemal central pair apparatus protein
ICOS inducible T-cell co-stimulator
IGHM immunoglobulin heavy constant mu
IL21R interleukin 21 receptor
IL2RG interleukin 2 receptor, gamma
JAK3 Janus kinase 3
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
LRRC6 leucine rich repeat containing 6
MATR3 matrin 3
MED12 mediator complex subunit 12
MGP matrix Gla protein
MID1 midline 1
NAGLU N-acetylglucosaminidase, alpha
NBN nibrin
NCF4 neutrophil cytosolic factor 4, 40kDa
NHP2 NHP2 ribonucleoprotein
NME8 NME/NM23 family member 8
NOP10 NOP10 ribonucleoprotein
OFD1 oral-facial-digital syndrome 1
PABPN1 poly(A) binding protein, nuclear 1
PLG plasminogen
PNP purine nucleoside phosphorylase
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RAI1 retinoic acid induced 1
RFX5 regulatory factor X, 5 (influences HLA class II expression)
RFXANK regulatory factor X-associated ankyrin-containing protein
RFXAP regulatory factor X-associated protein
RPGR retinitis pigmentosa GTPase regulator
RSPH4A radial spoke head 4 homolog A (Chlamydomonas)
RTEL1 regulator of telomere elongation helicase 1
SALL4 spalt-like transcription factor 4
SCNN1A sodium channel, non voltage gated 1 alpha subunit
SCNN1B sodium channel, non voltage gated 1 beta subunit
SCNN1G sodium channel, non voltage gated 1 gamma subunit
SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
SETBP1 SET binding protein 1
SGSH N-sulfoglucosamine sulfohydrolase
SH2D1A SH2 domain containing 1A
SHH sonic hedgehog
SOX9 SRY (sex determining region Y)-box 9
SPAG1 sperm associated antigen 1
STK11 serine/threonine kinase 11
TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
TAPBP TAP binding protein (tapasin)
TBX1 T-box 1
TCOF1 Treacher Collins-Franceschetti syndrome 1
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
TNFRSF13C tumor necrosis factor receptor superfamily, member 13C
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TP53 tumor protein p53
TP63 tumor protein p63
UFD1L ubiquitin fusion degradation 1 like (yeast)
UNC119 unc-119 homolog (C. elegans)
UNG uracil-DNA glycosylase
USB1 U6 snRNA biogenesis 1
WAS Wiskott-Aldrich syndrome
WRAP53 WD repeat containing, antisense to TP53
WT1 Wilms tumor 1
ZBTB24 zinc finger and BTB domain containing 24
ZMYND10 zinc finger, MYND-type containing 10